Standards for Genetic Variation Data

Main goals:

  • Survey the community on existing and anticipated genetic variation data sets

  • Survey the community on the need for genetic variation

  • Review existing software for calling genetic variation

  • Recommendation on standards for samples nomenclature metadata accompanying VCF files (genetic variation data) review across different Species. 

  • Develop a plan to disseminate the recommended standards using existing resources (or write a newly expanded user guide)

  • Training community members on best practices

  • Apply the concept with a minimum of 5 new submissions to the EVA. 

  • Write a report on the four activities (2-5 above).

  • Documentation on outcomes of targets above.  Potential for contributions to the whitepaper, based on outcomes.


Time a member dedicates to this working group on average (including meetings and assigned tasks):

  • Minimum 2 hours per month to attend a monthly meeting. 

  • Up to 6 extra hours if participating in specifically targeted meetings (e.g., biocuration, survey, documentation, review of workflows meetings). 

Benefits of joining this working group:

  • Professional development; 

  • Learning new resources; 

  • Developing a community of best practices;

  • Networking with others; 

  • Developing partnerships for future funding opportunities;  

  • Education/training experience; 

  • Potential authorship in reporting out, representation at meetings, and consulting.



Chair: Marcela Tello-Ruiz

Co-Chair: Timothee Cezard


  • Alexey Sokolov
  • Andria Harkey
  • Doreen Ware
  • Emily Grau
  • Kazim Wazir
  • Kelly Vining
  • Marcela Tello-Ruiz
  • Maria Skrabisova
  • Mazdak Salavati
  • Melanie Harrison
  • Moira Sheehan
  • Nahla Bassil
  • Nicholas Gladman
  • Rajdeep Singh Khangura
  • Sarah Dyer
  • Sebastian Beier
  • Sharon Wei
  • Shaun Clare
  • Sunita Kumari
  • Timothee Cezard
  • Yogendra Khedikar
  • Victoria DeLeo
  • Vivek Kumar


Meeting Schedule: Please contact us for more details.

For more information, please email